Variant (rsID / SNP)

rs128624214

rs128624214 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCD1. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ABCD1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_000033.4(ABCD1):c.1451C>G (p.Pro484Arg)
Allele change: Missense_P484R

Associated conditions / phenotypes

Adrenoleukodystrophy

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.